Full database search - rb1-lsdb - Leiden Open Variation Database

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The variants below are all in the RB1 database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the cDNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than RB1, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the RB1 full legend here.

70 public entries
entries per page

Path.

g-position

cDNA change

Type

Exon

RNA change

Protein

RBWiki

expected consequence type

DB-ID

originated_in

Patient ID

Phenotype

Mut. origin

Tissue

Template

tumor-genotype

family history

Reference

# Reported

Published

Remarks


?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Nip	bilateral rb	germline	blood	DNA	not reported	-	Cowell et al., 1994	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Nip	bilateral rb	germline	blood	DNA	not reported	-	Cowell et al., 1994	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Nip	bilateral rb	germline	blood	DNA	not reported	-	Cowell et al., 1994	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Nip	bilateral rb	germline	blood	DNA	not reported	-	Cowell et al., 1994	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	GOS563	unilateral rb	somatic	retinoblastoma	DNA	-	-	Hogg et al., 1993	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E482T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
+/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552*	-	nonsense	RB1_00121	somatic	E527T	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann et al., 1997	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E468	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E49	bilateral rb	germline	blood	DNA	-	isolated	Yilmaz et al., 1998	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E519	bilateral rb	germline	blood	DNA	-	isolated	Yilmaz et al., 1998	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Nip	unilateral rb	germline	blood	DNA	not reported	isolated	Cowell et al., 1996	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	HC7	bilateral rb	germline	retinoblastoma	DNA		familial	Braggio et al. (2004) J Clin Pathol 57(6): 585-90.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	HC38	bilateral rb	germline	retinoblastoma	DNA	-	familial	Braggio et al. (2004) J Clin Pathol 57(6): 585-90.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	-	-	nd	DNA	-	-	Braggio et al. (2004) J Clin Pathol 57(6): 585-90.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	RB58	bilateral rb	germline	blood	DNA	-	familial	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Fam86	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Fam541	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	JA253	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-		unilateral rb	germline	blood	DNA	-	-	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	-	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E2262	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E3982	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E724	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	bilateral rb	germline	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	bilateral rb	germline	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E2448	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E1938	bilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E2984	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E4464	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E3123	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	-	germline	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E3686	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	-	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E3939	unilateral rb	somatic	nd	DNA	LOH	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E4260	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E4828	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	E286	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	-	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Fam429	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Fam608	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Fam157	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Fam830	bilateral rb	germline	nd	DNA	-	-	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Fam652	unilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Fam76	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Fam696	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	Fam944	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	4u	unilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	15b	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	16b	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	4u	rb	germline	nd	DNA	-	isolated	-	1	-	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	15	bilateral rb	germline	blood	DNA	-	isolated	Abouzeid et al. (2007) Mol Vis 13: 1740	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	37	bilateral rb	germline	blood	DNA	-	isolated	Abouzeid et al. (2007) Mol Vis 13: 1740	1	published	-
?/+	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	not provided	bilateral rb	germline	blood	DNA	-	familial	-	1	published	-
?/?	g.78238C>T	c.1654C>T + c.100G>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	somatic	E5344	bilateral rb	-	tumor + blood	DNA	heterozygous	isolated	Germany:Essen	1	unpublished	-
+/?	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	-	IRB29	bilateral rb	somatic	Retinoblastoma Tumor	DNA	heterozygous	isolated	Iran:Tehran	1	-	-
?/?	g.78238C>T	c.1654C>T + c.2116_2118dup	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	somatic	E2337	unilateral rb	germline	tumor	DNA	heterozygous	isolated	Germany:Essen	1	-	-
?/?	g.78238C>T	c.1654C>T + c.1695+6T>C	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	somatic	E2782	unilateral rb	germline	tumor	DNA	heterozygous	isolated	Germany:Essen	1	-	-
?/?	g.78238C>T	c.1654C>T + c.2520+2T>G	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	somatic	E4156	unilateral rb	germline	tumor	DNA	heterozygous	isolated	Germany:Essen	1	-	-
?/?	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	germline	RB26	bilateral rb	germline	blood	DNA	-	-	Abidi et al. (2011) Mol Vis.;17:3541-7	1	published	-
?/?	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	somatic	NCI-H1048	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM887	1	published	-
?/?	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	somatic	#154/2013	unilateral rb	somatic	tumour	DNA	heterozygous	isolated	Renieri - Siena	1	unpublished	-
+/?	g.78238C>T	c.1654C>T	substitution	17_ex	-	p.Arg552X	-	nonsense	RB1_00121	unknown	Tab_1_12	retinoblastoma	unknown	blood	DNA	heterozygous	isolated	Ming-yan He et al. 2014 Mol.vis.: 20:545-52	1	published	-

1 - 70

Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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rb1-lsdb

retinoblastoma 1 (RB1)